Abstract

ORTIZ, Ángela et al. Glutaric aciduria, type I. Acta Neurol Colomb. [online]. 2012, vol.28, n.3, pp.157-165. ISSN 0120-8748.

Glutaric aciduria type i is a disorder resulting trom the deficiency ot the glutaryl-CoA dehydrogenase, enzyme involved in the catabolism ot L-lysine, L-hydroxy-lysine y L-tryptophan causing the accumulation ot its derivatives glutaric acid and 3-hydroxy-glutaric acid which are responsible tor the severe neurological involvement observed in this disease. The diagnosis ot metabolic disorders represents a challenge tor health-care services given its low incidence. Glutaric aciduria type I is a disease tor which there are available technical resources tor diagnosis as well as the nutritional therapy that when set prior to acute encephalopathy, who results in irreversible damage ot central nervous system, can improve the prognosis and decrease the disability ot patients. This publication report 5 cases with clinical and biochemical diagnosis ot glutaric aciduria type i that show the clinical spectrum the diagnostic and treatment approach ot this pathology in Colombia. All the patients are being followed by neuropediatrics services.

Keywords : Glutaryl-CoA Dehydrogenase; Glutaric Aciduria; Distonic Disorders; Encephalopathy; Corpus Striatum; Basal Ganglia.

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